A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145632



Internal ID344837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14231111..14237400hg38UCSC Ensembl
chr17:14134428..14140717hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386290
hg196290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711607
Samples
Known GenesCDRT15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer